Ribosomal protein L2 in Saccharomyces cerevisiae is homologous to ribosomal protein L1 in Xenopus laevis. Isolation and characterization of the genes.

By cross-hybridization with a cDNA probe for the Xenopus laevis ribosomal protein L1 we have been able to isolate the homologous genes from a Saccharomyces cerevisiae genomic library. We have shown that these genes code for a ribosomal protein which was previously named L2. In yeast, like in X. laevis, these genes are present in two copies per haploid genome and, unlike the vertebrate counterpart, they do not contain introns. Amino acid comparison of the X. laevis L1 and S. cerevisiae L2 proteins has shown the presence of a highly conserved protein domain embedded in very divergent sequences. Although these sequences are very poorly homologous, they confer an overall secondary structure and folding highly conserved in the two species

Cryopreservation of hazelnut (Corylus avellana l.) axillary buds from in vitro shoots using the droplet vitrification method

Cryopreservation by droplet vitrification was applied to hazelnut (Corylus avellana L.). axillary buds of the Italian cultivated variety Tonda Gentile Romana, which were collected from in vitro growing shoots, immersed in ice cooled PVS2 or PVS3 for 60 or 90 min, then transferred to a droplet of vitrification solution, placed on a strip of aluminium foil, and plunged into liquid nitrogen (LN). Additionally, the effect on the recovery of the mother plant after cryopreservation was evaluated, following a cold pre-treatment at 4◦C for 3 months. The highest regrowth percentage (56.7%) was obtained after applying PVS3 for 60 min, while the application of PVS2 for the same amount of time reduced regrowth to 41.5%. Increasing the exposure to vitrification solutions to 90 min reduced regrowth to 43.3% when PVS3 was applied, and 35.6% if PVS2 was used. The cold pre-treatment on the mother plant did not significantly improve overall regrowth. The cryopreservation process did not decline the rooting ability of the recovered shoot

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes

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Scrivere la LIS con il Sign Writing. Manuale introduttivo

Abstract not availableQuesto manuale nasce da un\u27intuizione, quella di poter utilizzare un sistema per trascrivere la Lingua dei Segni Italiana (LIS), adattando ai segni italiani il Sign Writing, ideato nel 1995 da Valerie Sutton (1995) e proposto come "un alfabeto per scrivere le lingue dei segni". La LIS infatti, come le altre lingue dei segni, non ha una corrispettiva forma scritta ed è stata tramandata di generazione in generazione dalla comunità sorda. La mancanza di una forma scritta, del resto comune a molte altre lingue, ha avuto tutta una serie di implicazioni nella storia della comunità sorda e la possibilità di utilizzare un sistema di trascrizione - come ha detto Valerie Sutton - può aprire nuove frontiere della comunicazione per i segnanti. L\u27attuale generazione di persone sorde adulte, che sta imparando a leggere e a scrivere le lingue segnate per la prima volta, sta creando la base per il lavoro delle generazioni future

Unità Lessematiche e Strutture di Grande Iconicità nella Lingua dei Segni Italiana (LIS): nuovi dati e nuove metodologie di analisi.

NON REPRINTInternational audienceIn this paper we deal with a still unresolved question in the study of LIS: what are the constituent units of the lexicon, and how much are comparable to those typical of spoken languages. The question is linked to the existence, in the signed discourse, of two main types of referring expressions: Lexematic Units (ULs) and Structures of Great Iconicity (SGIs). Making use of 5 different texts transcribed with SignWriting (SW), we explored the nature, the stability and/or the variability of sign shapes and of correspondences of meaning. We sampled the texts for different ways to express 10 entities/actions, and subsequently we asked their authors whether or not there is a "citational form", with an own autonomy for those same entities. The results show recurrent patterns in the selected expressive forms, and these include both ULs (less frequent) and SGIs (more present). Contrary to the assumption of most previous research, there are strong regularities in the elements that make up the SGI and the actual compositional choice. This fact highlights the need to include the SGI among the constituent units of LIS, suggesting to review the modeling of the lexicon of LIS (and of LS in general), identifying the most appropriate constructs that take into account the specific iconic and multilinear features of LS.Dans cet article, nous affrontons une question non encore résolue dans l'étude de la LIS: quels sont les éléments constitutifs du lexique, et dans quelle mesure sont-ils comparables à ceux des langues parlées. La question est liée à l'existence, dans un discours signé, de deux principaux types d'expressions référentielles: les Unités lexématiques (UL) et les Structures de grande iconicité (SGI). En utilisant 5 textes codifiés avec SignWriting (SW), nous avons exploré la typologie, la stabilité et/ou la variabilité des formes de Signes et des correspondances forme/signification. Nous avons recherché dans les textes les différentes façons d'exprimer 10 entités/actions, puis ensuite demander aux auteurs s’il existe une forme "citationnelle", dotée d’une autonomie de sens pour ces mêmes entités. Les résultats font apparaître des schémas récurrents dans les formes expressives identifiées et celles-ci comprennent à la fois des UL (moins fréquentes) et des SGI (plus présentes). Contrairement aux hypothèses d’une grande partie des travaux de recherche, on constate de fortes régularités dans les éléments qui composent les SGI et dans les choix de composition. Cela souligne la nécessité d'inclure la SGI parmi les unités constituantes de la LIS, et suggère qu’il faut revoir en profondeur les modélisations du lexique de la LIS (et des LS en général), en repérant les constructions mieux adaptées afin de tenir compte des caractéristiques iconiques spécifiques des LS.In questo contributo affrontiamo una questione tuttora irrisolta nello studio della LIS: quali siano le unità costitutive del lessico, e quanto siano paragonabili a quelle proprie delle lingue vocali. La questione è legata all'esistenza, nel discorso segnato, di due tipi principali di espressioni referenziali: le Unità Lessematiche (UL) e le Strutture di Grande Iconicità (SGI). Avvalendoci di 5 diversi testi codificati con SignWriting (SW), abbiamo esplorato la tipologia, la stabilità e/o la variabilità di forme segniche e corrispondenze forma-significato. Abbiamo ricercato nei testi i diversi modi di esprimere 10 entità/azioni per poi chiedere agli autori se esista o no una forma "citazionale", dotata di autonomia di senso per quelle stesse entità. I risultati evidenziano pattern ricorrenti nelle forme espressive individuate e queste comprendono sia UL (meno frequenti) che SGI (più presenti). Contrariamente a quanto ritenuto in gran parte delle ricerche, si osservano forti regolarità negli elementi che compongono le SGI e nelle scelte di composizione. Ciò evidenzia la necessità di includere le SGI fra le unità costitutive della LIS, suggerendo di rivedere in profondità le modellizazioni del lessico della LIS (e delle LS in genere), individuando costrutti più appropriati che tengano conto dei tratti iconici e multilineari specifici delle LS

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

Background and objectives: Genetic variants in the gene TARDBP, encoding TDP-43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases. Objectives of this study were to assess the contribution of TARDBP in a large cohort of Italian ALS patients, to determine the TARDBP-associated clinical features and to look for genotype-phenotype correlation and penetrance of the mutations.Methods: A total of 1992 Italian ALS patients (193 fALS and 1799 sALS) were enrolled in this study. Sanger sequencing of TARDBP gene was performed in patients and, when available, in patients' relatives.Results: In total, 13 different rare variants were identified in 43 index cases (10 fALS and 33 sALS) with a cumulative mutational frequency of 2.2% (5.2% of fALS, 1.8% of sALS). The most prevalent variant was the p.A382T followed by the p.G294V. Cognitive impairment was detected in almost 30% of patients. While some variants, including the p.G294V and the p.G376D, were associated with restricted phenotypes, the p.A382T showed a marked clinical heterogeneity regarding age of onset, survival and association with cognitive impairment. Investigations in parents, when possible, showed that the variants were inherited from healthy carriers and never occurred de novo.Conclusions: In our cohort, TARDBP variants have a relevant frequency in Italian ALS patients and they are significantly associated with cognitive impairment. Clinical presentation is heterogeneous. Consistent genotype-phenotype correlations are limited to some mutations. A marked phenotypic variability characterizes the p.A382T variant, suggesting a multifactorial/oligogenic pathogenic mechanism

IDENTIFICAÇÃO DE Helicobacter spp. EM MUCOSAS GÁSTRICA E DUODENAL DE CÃES (Canis familiaris) UTILIZANDO A TÉCNICA DE WARTHIN-STARRY

Bactérias do gênero Helicobacter spp. têm sido identificadas na mucosa gástrica de diferentes espécies de mamíferos, inclusive em caninos. Pacientes infectados têm gastrite histológica; no entanto, não são todos os portadores que apresentam sinais clínicos. O objetivo deste trabalho foi identificar as bactérias sugestivas de Helicobacter spp. pela impregnação pela prata e caracterizar as lesões histopatológicas observadas. Foram analisadas amostras de mucosas gástrica e entérica de 26 caninos. Para avaliação histopatológica, foi realizada avaliação qualitativa, na qual foram atribuídos escores de ausente (-) a acentuada (+++), considerando a densidade de bactérias espiraladas por campo (400x), presença de células inflamatórias e aglomerados linfoides. Dos 26 animais avaliados, 34,6% apresentaram positividade para helicobacteriose. A gastrite foi observada em 15,38% dos animais e a maior ocorrência de bactérias do gênero Helicobacter spp. foi observada em região de corpo/fundo gástrico (23%). Em nove amostras, seis de corpo/fundo gástrico e três de antro pilórico, foram observados aglomerados linfóides associados a Helicobacter spp. Por meio de Teste de Fisher, verificou-se associação positiva entre a presença de Helicobacter spp. e agregados linfoides (p<0,001). A infecção por Helicobacter spp. está associada com a presença de aglomerados linfóides em caninos. Palavras-chave: bactéria espiralada; cães; estômago; histoquímica; intestino

Dalla modalità faccia-a-faccia ad una lingua scritta emergente: nuove prospettive su trascrizione e scrittura della Lingua dei Segni italiana (LIS).

International audienceThis paper presents preliminary findings from research using SignWriting (SW) for representing Italian Sign Language (LIS) in written form. Our analyses are based on three LIS narrative texts elicited from three signers via the presentation of Chafe’s (1980) “Pear Story” film including: - a transcription from a video-recorded, face-to-face signed production; - two texts conceived and expressed directly in written LIS. We describe and discuss similarities and differences in the symbolization processes linked to the communication modalities. We show how SW-encoded representations highlight the differences existing between face-to-face interaction and written expression, as well as between “transcription” and “original” writings. These written representations also provide a powerful methodological tool for improving the analysis of LIS and enhancing metalinguistic reflections on LIS texts in ways until now impossible with other notation systems.Cet article présente les résultats préliminaires d'une recherche qui utilise SignWriting (SW) pour la représentation écrite de la Langue des Signes italienne (LIS). Les analyses sont fondées sur trois textes narratifs en LIS inspirés chez trois signeurs après avoir assisté à la vision du film "Pear Story" (Chafe, 1980), avec: la transcription d'une production singée en face-à-face et vidéo-enregistrée, deux textes directement conçus et exprimés en LIS écrite. Les auteurs décrivent et analysent les similitudes et les différences dans les processus de symbolisation liés à la modalité de communication. Il est ensuite montré que les représentations codifiées par SW mettent en évidence les différences qui existent entre l’interaction face-à-face et l’expression écrite, ainsi qu'entre "transcriptions" et écrits "originaux". Ces représentations écrites constituent un outil méthodologique puissant pour améliorer l'analyse de la LIS et valoriser les réflexions métalinguistiques sur des textes de LIS, selon des modalités jusqu’à présent impossibles avec d’'autres systèmes de notation.Questo documento presenta i risultati preliminari di una ricerca che usa SignWriting (SW) per la rappresentazione in forma scritta della Lingua dei Segni Italiana (LIS). Le analisi si basano su tre testi narrativi in LIS ispirati in tre segnanti via la visione del film "Pear Story" (Chafe, 1980), tra cui: una trascrizione di una produzione segnata faccia-a-faccia e videoregistrata; due testi direttamente concepiti ed espressi in LIS-scritta. Gli Autori descrivono e discutono le somiglianze e le differenze nei processi di simbolizzazione legati alla modalità di comunicazione. Viene poi mostrato come le rappresentazioni codificate tramite SW evidenzino le differenze esistenti tra interazione faccia-a-faccia e l'espressione scritta, nonché tra "trascrizione" e scritti "originali". Queste rappresentazioni scritte forniscono anche un potente strumento metodologico per migliorare l'analisi della LIS e per valorizzare le riflessioni metalinguistiche su testi LIS, in modi finora impossibili con altri sistemi di annotazione

Zebrafish models of collagen VI-related myopathies

Collagen VI is an integral part of the skeletal muscle extracellular matrix, providing mechanical stability and facilitating matrix-dependent cell signaling. Mutations in collagen VI result in either Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM), with UCMD being clinically more severe. Recent studies demonstrating increased apoptosis and abnormal mitochondrial function in Col6a1 knockout mice and in human myoblasts have provided the first mechanistic insights into the pathophysiology of these diseases. However, how loss of collagen VI causes mitochondrial dysfunction remains to be understood. Progress is hindered in part by the lack of an adequate animal model for UCMD, as knockout mice have a mild motor phenotype. To further the understanding of these disorders, we have generated zebrafish models of the collagen VI myopathies. Morpholinos designed to exon 9 of col6a1 produced a severe muscle disease reminiscent of UCMD, while ones to exon 13 produced a milder phenotype similar to BM. UCMD-like zebrafish have increased cell death and abnormal mitochondria, which can be attenuated by treatment with the proton pump modifier cyclosporin A (CsA). CsA improved the motor deficits in UCMD-like zebrafish, but failed to reverse the sarcolemmal membrane damage. In all, we have successfully generated the first vertebrate model matching the clinical severity of UCMD and demonstrated that CsA provides phenotypic improvement, thus corroborating data from knockout mice supporting the use of mitochondrial permeability transition pore modifiers as therapeutics in patients, and providing proof of principle for the utility of the zebrafish as a powerful preclinical model

Distinct Effects of p19 RNA Silencing Suppressor on Small RNA Mediated Pathways in Plants

RNA silencing is one of the main defense mechanisms employed by plants to fight viruses. In change, viruses have evolved silencing suppressor proteins to neutralize antiviral silencing. Since the endogenous and antiviral functions of RNA silencing pathway rely on common components, it was suggested that viral suppressors interfere with endogenous silencing pathway contributing to viral symptom development. In this work, we aimed to understand the effects of the tombusviral p19 suppressor on endogenous and antiviral silencing during genuine virus infection. We showed that ectopically expressed p19 sequesters endogenous small RNAs (sRNAs) in the absence, but not in the presence of virus infection. Our presented data question the generalized model in which the sequestration of endogenous sRNAs by the viral suppressor contributes to the viral symptom development. We further showed that p19 preferentially binds the perfectly paired ds-viral small interfering RNAs (vsiRNAs) but does not select based on their sequence or the type of the 5’ nucleotide. Finally, co-immunoprecipitation of sRNAs with AGO1 or AGO2 from virus-infected plants revealed that p19 specifically impairs vsiRNA loading into AGO1 but not AGO2. Our findings, coupled with the fact that p19-expressing wild type Cymbidium ringspot virus (CymRSV) overcomes the Nicotiana benthamiana silencing based defense killing the host, suggest that AGO1 is the main effector of antiviral silencing in this host-virus combination